Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.040 | 1.000 | 4 | 2013 | 2015 | ||||
|
1 | 21 | 31669690 | upstream gene variant | T/G | snv | 3.9E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||||
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2007 | 2012 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2009 | 2012 | |||||
|
6 | 0.851 | 0.200 | 15 | 79862640 | intron variant | C/T | snv | 0.31 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
1 | 4 | 38798831 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 16 | 28585563 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.882 | 0.120 | 12 | 57415673 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.240 | 9 | 126693319 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 9 | 35166766 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
7 | 0.851 | 0.200 | 4 | 73404374 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.160 | 22 | 36261386 | intron variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 |